PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTG...

Descripción completa

Detalles Bibliográficos
Autores principales: Coco-Martin, Rosa M., Sanchez-Tocino, Hortensia T., Desco, Carmen, Usategui-Martín, Ricardo, Tellería, Juan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397286/
https://www.ncbi.nlm.nih.gov/pubmed/32660024
http://dx.doi.org/10.3390/genes11070773

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397286/
https://www.ncbi.nlm.nih.gov/pubmed/32660024
http://dx.doi.org/10.3390/genes11070773

Ejemplares similares